Download case report a case report of rare presentation of marfan`s syndrome

CASE REPORT
A CASE REPORT OF RARE PRESENTATION OF MARFAN’S
SYNDROME
D. Pavan Kumar1, G. Vamsi Chaithanya2, K. Hemanth3, G. Lokendranath4, R. Prabhakar Rao5
HOW TO CITE THIS ARTICLE:
D. Pavan Kumar, G. Vamsi Chaithanya, K. Hemanth, G. Lokendranath, R. Prabhakar Rao. “A Case Report of
Rare Presentation of Marfan’s Syndrome”. Journal of Evidence based Medicine and Healthcare; Volume 1,
Issue 16, December 22, 2014; Page: 2109-2115.
ABSTRACT: Marfan syndrome is a heritable condition that affects the connective tissues of
Human body. It can affect any body systems including the skeleton, eyes, heart and blood
vessels, nervous system, skin, and lungs. Estimates indicate that approximately 1 in 3,000 to
5,000 individuals have Marfan syndrome and most individuals with Marfan’s syndrome have
another affected family member which are due to new genetic mutations. We present to you an
interesting rare case which reported to our hospital few months back with features of Marfan’s
syndrome. Without cardiac or respiratory involvement and associated Mutism and Hypogonadism.
In the family no other member was affected.
KEYWORDS: Marfan’s syndrome, Mutism, Hypogonadism, Arachnodactyly, sinus of Valsalva,
Prognathism.
INTRODUCTION: Marfan syndrome is named after Antoine Marfan, the French pediatrician who
first described the condition in 1896.Marfan syndrome is a multisystem connective tissue disorder
usually associated with mutation in fibrillin, and occasionally with mutation in TGFBR1 or 2. The
minimal birth incidence is 1 in 9800.1 About 27% of cases arise from new mutation. Marfan
syndrome is a variable autosomal dominant disorder with characteristic cardiovascular, eye and
skeletal features. Progressive aortic dilatation, usually maximal at the sinus of Valsalva,
associated with aortic valve incompetence leads to aortic dissection or rupture and is the principal
cause of mortality, but mitral valve prolapsed with incompetence may be significant, and lens
dislocation, myopia, and arthritis associated with chronic joint laxity can cause substantial
morbidity.2
The diagnosis is commonly considered in a young person with a tall, thin body habitus,
long limbs, arachnodactyly, pectus deformities, and sometimes scoliosis. Some clinical findings
such as a high arched palate with dental crowding, skin striae, recurrent hernia or recurrent
pneumothorax may increase suspicion. Family history may be helpful, but around 27% of cases
arise from new mutation.3
To make the diagnosis of Marfan’s syndrome more consistent and of more prognostic
value, the Berlin diagnostic criteria of 1988 were revised and the clinical features codified as the
Ghent nosology in 1996.4 Ectopialentis (subluxation of lens) is a hallmark feature of Marfan’s
syndrome which is present in approximately 60% to 80% of patients5 and was also noticed in the
present cases. Ectopialentis is usually bilateral, symmetrical, and upward. The diagnosis can be
made by looking for iridodonesis (tremor of iris), phacodonesis (abnormal movement of lens),
and a deep anterior chamber in the non-dilated eye.5
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CASE REPORT: A tall 23 year old man presented with sudden onset of blurred vision,
mucopurulent discharge and watering from the right eye to the ophthalmology outpatient. The
patient being planned for surgery was sent to medical OPD for fitness. On general examination:
Height: 163 cms. Arm span: 171cms. His vital signs showed pulse: 76/ min regular, low volume,
B.P: 90/60 mm of Hg in right upper arm and respiratory rate: 18/min abdomino thoracic type
with temperature normal. On detailed CNS examination the patient was found to have
microcephaly, arachnodactyly, marfansbuild, mutism, prognathism, distal muscle wasting (Hallus
valgus left side), lumbar lardosis, protruded abdomen, no secondary sexual characters and left
undescended testis.
No deafness and bilateral immature cataract was found. The examination of other systems
Cardiac, respiratory and abdomen revealed no abnormality. Interestingly, apart from absence of
secondary sexual characters, one of his testis on left side did not descend. On investigations
chest x ray did not suggest any pulmonary or cardiac pathology. ECG shows prominent R in V1
which a sign of right axis deviation. Routine blood and biochemical analysis werenormal.
Fig. 1: Tall stature, Flat chest. Absence of axillary hair and long-arm span
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Fig. 2: Dry scaly skin with
long and tapering first toe
Fig. 4: Head and neck examination
revealed a convex profile with long
and narrow face
Fig. 3: Long spidery fingers
(Arachnodactyly)
Fig. 5: Prognathism
Fig. 6: undecended testis
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Fig. 7: A special clinical test for evaluation of hyperextensibility
included thumb (steinberg) sign and wrist (walker sign)
The thumb sign (Steinberg's sign) is elicited by asking the patient to flex the thumb as far
as possible and then close the fingers over it. A positive thumb sign is where part of the thumb is
visible beyond the ulnar border of the hand, caused by a combination of hypermobility of the
thumb as well as a thumb which is longer than usual.
The wrist sign (Walker's sign) is elicited by asking the patient to curl the thumb and
fingers of one hand around the other wrist. A positive wrist sign is where the little finger and the
thumb overlap, caused by a combination of thin wrists and long fingers.
Fig. 8: Protruded abdomen
Fig. 9: ECG shows prominent R in V1
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DISCUSSION: Most patients who have Marfan’s syndrome are usually diagnosed incidentally
when they present for a routine physical examination. Marfan’s syndrome primarily involves the
skeletal, ocular, and cardiovascular systems. Typically, patients with Marfan’s syndrome present
with tall stature, ectopialentis, aortic root dilatation, and a positive family history. Less frequently,
the diagnosis is made when a patient presents with complications of the syndrome, such as aortic
dissection, or with involvement of the pulmonary, skin/integument, or nervous systems2
Presentation of the disease varies greatly, even among family members. Some persons with
Marfan’s syndrome experience only mild effects, whereas others have severe problems. Fibrillin-1
mutation causes some Marfan-like disorders with a better prognosis. Recently, mutations in the
transforming growth factor b-receptor 2 (TGFBR2) Gene on chromosome 3 and in the TGFBR1
gene on chromosome 9 were found in some families with apparent Marfan syndrome. These
”Marfan’s syndrome type 2" families seem less likely to have ectopialentis.3 Skeletal
manifestations are the cardinal signs of Marfan’s syndrome and usually gain the attention of a
physician. The most common features include tall stature with the lower segment of the body
greater than the upper segment and long, slender limbs, or dolichostenomelia; thin body habitus
with increased arm span-to-height ratio; long, slender fingers, or arachnodactyly; deformities of
the chest, such as pectuscarinatum or pectusexcavatum, scoliosis and highly arched palate with
crowded teeth and dental malocclusion. Other less common manifestations include hypermobility
of joints, flat foot (pesplanus), reduced extension of elbows (<170°), and elongated face
(dolichocephalia). Most of the features were seen in the present two cases except hypermobility
of joints and flat foot (pesplanus). Patients should be examined for arachnodactyly; positive wrist
or Walker's sign (the distal phalange of the first and fifth fingers of the hand overlap when
wrapped around the opposite wrist); and positive thumb or Steinberg sign (the thumb projects
beyond the ulnar border while completely opposed within the clenched hand which were positive
in both the cases).
Cardiovascular manifestations are the most serious complications and determine the
prognosis and survival in Marfan syndrome. Abnormalities include aortic root dilatation, aortic
regurgitation, aortic dissection, and aortic aneurysm, which most commonly involves the
ascending aorta but can involve the descending aorta.4 Mild aortic annulus and root dilation with
trivial mitral regurgitation, tricuspid regurgitation, and aortic regurgitation was noticed in the first
patient.
Ectopialentis (subluxation of lens) is a hallmark feature of Marfan syndrome which is
present in approximately 60% to 80% of patients5 and was also noticed in the present cases.
Ectopialentis is usually bilateral, symmetrical, and upward. The diagnosis can be made by looking
for iridodonesis (tremor of iris), phacodonesis (abnormal movement of lens), and a deep anterior
chamber in the nondilated eye.6 Striae may occur over the shoulders and buttocks as noticed in
the first case. Pulmonary manifestations include spontaneous pneumothorax and apical blebs.
Marked dilatation of the dural sac may be seen frequently in computed tomography or magnetic
resonance imaging scans, but the condition is usually asymptomatic.
The diagnosis can be established by a comprehensive clinical evaluation and diagnostic
criteria have been established. The Ghent criteria are based upon family/genetic history,
involvement of organ systems (primarily skeletal, cardiovascular, and ocular), and whether the
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clinical sign is major or minor7 Major criteria are specific for Marfan syndrome and are rarely
present in the general population. According to these criteria, Marfan syndrome in a patient with
unequivocal family history is diagnosed when there is major involvement in one organ system
(skeletal, cardiovascular, or ocular) and involvement of a second organ system. If the patient has
no first-degree relative who is unequivocally affected by Marfan syndrome, the patient must have
major criteria in at least two different organ systems and involvement of a third (skeletal,
cardiovascular, and ocular) to be diagnosed with Marfansyndrome.7
CONCLUSION: Marfan’s syndrome is an inheritable connective tissue disorder and is rare as
compared to acquired connective tissue disorders. Marfan’s syndrome is one of the most common
single gene defects with a prevalence of around 1 in 9800 population. It is characterized by
diverse clinical manifestations. Genetic testing is nonspecific, and the diagnosis is based on
clinical criteria. Despite the morbidity and mortality associated with Marfan’s syndrome,
appropriate medical and surgical management can improve and extend the lives of many
patients, and advancing research holds the promise of further improvements in the future.
REFERENCES:
1. Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, et al. Life expectancy in
British Marfan syndrome populations. Clin Genet 1998; 54: 124-8.
2. Dean JC. Marfan syndrome: Clinical diagnosis and management. Eur J Hum Genet 2007; 15:
724-33.
3. Grimes SJ, Acheson LS, Matthews AL, Wiesner GL. Clinical consult: Marfan syndrome. Prim
Care 2004; 31: 739-42, xii.
4. Murdoch JL, Walker BA, Halpern BL, Kuzma JW, Mc Kusick VA. Life expectancy and causes
of death in the Marfan syndrome. N Engl J Med 1972; 286: 804-8.
5. Rangasetty UC, Karnath BM. Clinical signs of Marfan syndrome. Hosp Physician April 2006:
33-38.
6. Cross HE, Jensen AD. Ocular manifestations in the Marfan syndrome and homocystinuria.
Am J Ophthalmol 1973; 75: 405-20.
7. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria
for the Marfan syndrome. Am J Med Genet 1996; 62: 417-26.
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CASE REPORT
AUTHORS:
1. D. Pavan Kumar
2. G. Vamsi Chaithanya
3. K. Hemanth
4. G. Lokendranath
5. R. Prabhakar Rao
PARTICULARS OF CONTRIBUTORS:
1. 3rd Year Post Graduate, Department of
General Medicine, Santhiram Medical College
& General Hospital, Nandyal.
2. 2nd Year Post Graduate, Department of
General Medicine, Santhiram Medical College
& General Hospital, N.H -18, Nandyal.
3. 1st Year Post Graduate, Department of
General Medicine, Santhiram Medical College
& General Hospital, N.H -18, Nandyal.
4. Assistant Professor, Department of General
Medicine, Santhiram Medical College &
General Hospital, Nandyal.
5. Professor & HOD, Department of General
Medicine, Santhiram Medical College &
General Hospital, Nandyal.
NAME ADDRESS EMAIL ID OF THE
CORRESPONDING AUTHOR:
Dr. D. Pavan Kumar,
3rd Year Post Graduate,
Department of General Medicine,
Santhiram Medical College &
General Hospital, Nandyal.
E-mail: [email protected]
Date
Date
Date
Date
of
of
of
of
Submission: 07/12/2014.
Peer Review: 08/12/2014.
Acceptance: 10/12/2014.
Publishing: 22/12/2014.
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